Open Access

A novel KRT5 mutation associated with generalized severe epidermolysis bullosa simplex in a 2‑year‑old Chinese boy

  • Authors:
    • Jia Zhang
    • Ming Yan
    • Jianying Liang
    • Ming Li
    • Zhirong Yao
  • View Affiliations

  • Published online on: September 20, 2016     https://doi.org/10.3892/etm.2016.3717
  • Pages: 2823-2826
  • Copyright: © Zhang et al. This is an open access article distributed under the terms of Creative Commons Attribution License.

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Abstract

Mutations in keratin 5 (KRT5) or KRT14 genes are responsible for the most severe form of epidermolysis bullosa simplex (EBS), which is EBS generalized severe (EBS‑gen sev). To date, only four pathogenic mutations (p.Arg165Ser and p.Lys199Asn in KRT5; p.Arg125Cys and p.Arg125His in KRT14) have been reported to be responsible for EBS‑gen sev in the Chinese population. In the present study, a 2‑year‑old Chinese boy was clinically suspected to suffer from EBS, and thus Sanger sequencing was performed in the extracted genomic DNA samples from the patient, his parents and 100 healthy controls. A novel de novo heterozygous missense mutation c.503A>G (p.Glu168Gly) located at the N‑terminal end segment of the 1A domain in KRT5 was identified by molecular analysis. In silico analysis tools were used to predict the pathogenicity of the novel missense mutation. A diagnosis of EBS‑gen sev was thus confirmed according to the clinical presentations and molecular results.
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November-2016
Volume 12 Issue 5

Print ISSN: 1792-0981
Online ISSN:1792-1015

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Copy and paste a formatted citation
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Spandidos Publications style
Zhang J, Yan M, Liang J, Li M and Yao Z: A novel KRT5 mutation associated with generalized severe epidermolysis bullosa simplex in a 2‑year‑old Chinese boy. Exp Ther Med 12: 2823-2826, 2016.
APA
Zhang, J., Yan, M., Liang, J., Li, M., & Yao, Z. (2016). A novel KRT5 mutation associated with generalized severe epidermolysis bullosa simplex in a 2‑year‑old Chinese boy. Experimental and Therapeutic Medicine, 12, 2823-2826. https://doi.org/10.3892/etm.2016.3717
MLA
Zhang, J., Yan, M., Liang, J., Li, M., Yao, Z."A novel KRT5 mutation associated with generalized severe epidermolysis bullosa simplex in a 2‑year‑old Chinese boy". Experimental and Therapeutic Medicine 12.5 (2016): 2823-2826.
Chicago
Zhang, J., Yan, M., Liang, J., Li, M., Yao, Z."A novel KRT5 mutation associated with generalized severe epidermolysis bullosa simplex in a 2‑year‑old Chinese boy". Experimental and Therapeutic Medicine 12, no. 5 (2016): 2823-2826. https://doi.org/10.3892/etm.2016.3717